Sunday, August 26, 2012

It Takes Two to Tango

The new study about autism published this week in the online journal Nature opens the door to more conjecture about why the rates of diagnoses of autism have skyrocketed in the last decade. Most of us who don't have a strong interest in autism think of Dustin Hoffman and Tom Cruise in Rainman as the definitive phenotype. That is a case that is autism at it's most evident. We used to refer to people with this low level functioning as savants and they were often misdiagnosed as severely retarded. Now we know that there is a very, very wide range of functioning on the autistic spectrum, as it is referred to in the literature.

In my practice, clients are sure that they aren't out of the woods ( and autism is the jungle for them ) for a few years. Perinatal ultrasound shows a lot of things, but not those nefarious mental and cognitive functions that we so desperately seek reassurance for when we are expecting a baby. Parents hover over their children looking for developmental milestones that indicate everything is "okay". Aberrant behaviors are not always obvious, especially since the spectrum has become so broad. Asberger's Syndrome is often never really diagnosed and behavior disorders are wrongly classified as high functioning autism.

This new study which is truly genetic is led by Icelandic scientists who studied DNA, focused exclusively on families who had no evidence of any mental disorders and subsequently gave birth to an individual with autism or schizophrenia. This allowed for the isolation of genetic mutations found only in the child that are not present in the parents. These de novo mutations occur spontaneously around conception. Some are inconsequential and some are now shown to increase risks for autism and schizophrenia.

In this study, paternal age seems to be the factor that increases the risk, by about two percent. Risk is the operative word, not incidence. The age of the mother seems to be non-contribulatory, in this instance. So, more evidence that vaccines are not the culprit? It seems that may be so. Environment? Well, a lot still needs to be examined. It appears that from this one study the most relevant information is that there is an increased ( relatively small ) risk of autism, schizophrenia and perhaps other mental disorders due to the presence of de novo mutations found in sperm of men over forty. Lots of us know men who have perfectly normal children ( whatever that means ) who were conceived when their father was well over that age. But it offers conjecture for freezing sperm for a new reason now and we all know that women have been freezing eggs for a variety of reasons for decades because of studies about maternal age and the risks associated with conception after thirty-five years of age.

This month there was a study about birth control pills for males, as well. There is good evidence that these pills are effective in mouse populations, so maybe sometime in the future men will be better able to control conception. It seems to me, at least, that we are finally recognizing that it takes two to tango. Still a feminist, after all these years.